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List of works by John A. Morgan-Hughes

A case of myopathy associated with a dystrophin gene deletion and abnormal glycogen storage

scientific article published on 01 January 1993

A mitochondrial encephalomyopathy with specific deficiencies of two respiratory chain polypeptides and a circulating autoantibody to a mitochondrial matrix protein

scientific article published in April 1990

A mitochondrial myopathy characterized by a deficiency in reducible cytochrome b.

scientific article published in December 1977

A mitochondrial myopathy with a deficiency of respiratory chain NADH-CoQ reductase activity ⬇️

scientific article published on 01 September 1979

A molecular genetic study of focal histochemical defects in mitochondrial encephalomyopathies ⬇️

scientific article published on April 1, 1992

A new mitochondrial DNA mutation associated with progressive dementia and chorea: A clinical, pathological, and molecular genetic study

scientific article published on 01 March 1995

A new mitochondrial disease associated with mitochondrial DNA heteroplasmy

scientific article

A new mitochondrial myopathy. Biochemical studies revealing a deficiency in the cytochrome b-c1 complex (complex III) of the respiratory chain ⬇️

scientific article published on December 1, 1984

A novel mutation in the mitochondrial tRNA(TYr) gene associated with exercise intolerance

scientific article published on 01 October 2000

A rapidly progressive adolescent-onset oculopharyngeal somatic syndrome with rimmed vacuoles in two siblings

scientific article published on 01 January 1997

A tandem duplication in the D-loop of human mitochondrial DNA is associated with deletions in mitochondrial myopathies

scientific article published on 01 May 1993

Acanthocytosis, retinitis pigmentosa, and pallidal degeneration: a report of three patients, including the second reported case with hypoprebetalipoproteinemia (HARP syndrome)

scientific article published on 01 March 1995

Alterations in the number and affinity of junctional acetylcholine receptors in a myopathy with tubular aggregates. A newly recognized receptor defect

scientific article published on 01 June 1981

An animal model of mitochondrial myopathy: a biochemical and physiological investigation of rats treated in vivo with the NADH-CoQ reductase inhibitor, diphenyleneiodonium

scientific article published on 01 February 1988

Biochemical and molecular aspects of human mitochondrial respiratory chain disorders

scientific article published on 01 August 1990

Chronic administration of the oral hypoglycaemic agent diphenyleneiodonium to rats. An animal model of impaired oxidative phosphorylation (mitochondrial myopathy).

scientific article

Chronic demyelinating peripheral neuropathy associated with multifocal central nervous system demyelination

scientific article published on 01 February 1987

Congenital encephalomyopathy and adult-onset myopathy and diabetes mellitus: different phenotypic associations of a new heteroplasmic mtDNA tRNA glutamic acid mutation

scientific article published on May 1995

Congenital myasthenia: further evidence of disease heterogeneity

scientific article published on 01 March 1986

Cytochrome c oxidase deficiency associated with the first stop-codon point mutation in human mtDNA.

scientific article

Deletions of muscle mitochondrial DNA

scientific article published on 01 June 1988

Deletions of muscle mitochondrial DNA in mitochondrial myopathies: sequence analysis and possible mechanisms.

scientific article published on June 1989

Deletions of muscle mitochondrial DNA in patients with mitochondrial myopathies

scientific article published in Nature

Evidence for intramitochondrial complementation between deleted and normal mitochondrial DNA in some patients with mitochondrial myopathy

scientific article published on 01 January 1992

Experimentally induced defects of mitochondrial metabolism in rat skeletal muscle. Biological effects of the NADH: coenzyme Q reductase inhibitor diphenyleneiodonium

scientific article published on July 1985

Experimentally induced defects of mitochondrial metabolism in rat skeletal muscle. Biological effects of the mitochondrial uncoupling agent 2,4-dinitrophenol

scientific article published on July 1985

Fifty year follow-up of a patient with central core disease shows slow but definite progression ⬇️

scientific article published on 01 August 1998

Human mitochondrial respiratory chain deficiencies

scientific article published on January 1988

Impaired mitochondrial translation in human myoblasts harbouring the mitochondrial DNA tRNA lysine 8344 A → G (MERRF) mutation: relationship to proportion of mutant mitochondrial DNA

scientific article published on 01 June 1995

Intercostal muscle acetylcholine receptors in longstanding ocular myasthenia ⬇️

scientific article published on December 13, 1980

Isozyme patterns and protein profiles in neuromuscular disorders ⬇️

scientific article published on June 1, 1982

Kearns-Sayre syndrome associated with mitochondrial DNA deletion or duplication: a molecular genetic and pathological study

scientific article published on 01 July 1995

Late onset Leber's optic neuropathy: a case confused with ischaemic optic neuropathy ⬇️

scientific article published on September 1, 1992

MELAS: a new disease associated mitochondrial DNA mutation and evidence for further genetic heterogeneity

scientific article

Mitochondrial DNA (mtDNA) diseases: correlation of genotype to phenotype

scientific article published in May 1995

Mitochondrial DNA mutation underlying Leigh's syndrome: clinical, pathological, biochemical, and genetic studies of a patient presenting with progressive myoclonic epilepsy

scientific article

Mitochondrial DNA polymorphism in mitochondrial myopathy

scientific article published on May 1988

Mitochondrial DNA transfer RNA mutation Leu(UUR)A-->G 3260: a second family with myopathy and cardiomyopathy

scientific article published on 01 July 1993

Mitochondrial encephalomyopathies: biochemical studies in two cases revealing defects in the respiratory chain

scientific article published in September 1982

Mitochondrial encephalomyopathies: the enigma of genotype versus phenotype

scientific article

Mitochondrial encephalopathies: molecular genetic diagnosis from blood samples ⬇️

scientific article published on June 1, 1991

Mitochondrial encephalopathy with multiple mitochondrial DNA deletions: a report of two families and two sporadic cases with unusual clinical and neuropathological features

scientific article published on 01 November 1996

Mitochondrial myopathies: clinical and biochemical features of 30 patients with major deletions of muscle mitochondrial DNA

scientific article published on 01 December 1989

Mitochondrial myopathies: clinical defects

scientific article published on 01 August 1990

Mitochondrial myopathies: defects in mitochondrial metabolism in human skeletal muscle

scientific article published in December 1983

Mitochondrial myopathies: deficiencies localized to complex I and complex III of the mitochondrial respiratory chain

scientific article published in August 1985

Mitochondrial myopathies: disorders of the respiratory chain and oxidative phosphorylation

scientific article published on 01 January 1984

Mitochondrial myopathies: genetic defects

scientific article published on August 1990

Mitochondrial myopathy with a defect of mitochondrial-protein transport

scientific article published on 01 July 1990

Mitochondrial myopathy. Biochemical studies revealing a deficiency of NADH--cytochrome b reductase activity

scientific article published on 01 April 1981

Mitochondrial myopathy: a genetic study of 71 cases

scientific article

Molecular basis of mitochondrial myopathies: polypeptide analysis in complex-I deficiency

scientific article published on 01 March 1988

Molecular defects of NADH-ubiquinone oxidoreductase (complex I) in mitochondrial diseases

scientific article published on June 1988

Movement disorders in mitochondrial myopathies. A study of nine cases with two autopsy studies

scientific article published on January 1990

Myoadenylate deaminase deficiency or not? Observations on two brothers with exercise-induced muscle pain

scientific article published on 01 January 1982

New phenotypic diversity associated with the mitochondrial tRNA(SerUCN) gene mutation.

scientific article published in May 2005

One-step immunoaffinity purification of complex I subunits from beef heart mitochondria

scientific article published on 01 June 1992

Prolonged aerobic exercise: physiological studies in rat gastrocnemius with additional observations on the effects of acute mitochondrial blockade

scientific article published on 01 September 1989

Salbutamol treatment in a patient with hyperkalaemic periodic paralysis due to a mutation in the skeletal muscle sodium channel gene (SCN4A).

scientific article

The Neuropsychological Features of Mitochondrial Myopathies and Encephalomyopathies ⬇️

scientific article published on February 1, 1992

The cerebral metabolism of glucose and oxygen measured with positron tomography in patients with mitochondrial diseases

article published in 1988

The clinical features of mitochondrial myopathy

scientific article

The mitochondrial DNA G13513A transition in ND5 is associated with a LHON/MELAS overlap syndrome and may be a frequent cause of MELAS

article

The mitochondrial DNA transfer RNA(Lys)A-->G(8344) mutation and the syndrome of myoclonic epilepsy with ragged red fibres (MERRF). Relationship of clinical phenotype to proportion of mutant mitochondrial DNA.

scientific article published in June 1993

The mitochondrial DNA transfer RNALeu(UUR) A-->G(3243) mutation. A clinical and genetic study

scientific article published on 01 June 1995

The mitochondrial myopathies. Defects of the mitochondrial respiratory chain and oxidative phosphorylation system

scientific article published on 01 January 1987

The molecular pathology of human respiratory chain defects

scientific article published on January 1991

The molecular pathology of respiratory-chain dysfunction in human mitochondrial myopathies

scientific article published on 01 July 1990

The retinal manifestations of mitochondrial myopathy. A study of 22 cases

Treatment of experimental NADH ubiquinone reductase deficiency with menadione

scientific article published on August 1, 1992

X-linked recessive bulbospinal neuronopathy: a report of ten cases

scientific article

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